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Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.
Kurotaki, Naohiro; Harada, Naoki; Shimokawa, Osamu; Miyake, Noriko; Kawame, Hiroshi; Uetake, Kimiaki; Makita, Yoshio; Kondoh, Tatsuro; Ogata, Tsutomu; Hasegawa, Tomoko; Nagai, Toshiro; Ozaki, Takao; Touyama, Mayumi; Shenhav, Ruthie; Ohashi, Hirofumi; Medne, Livija; Shiihara, Takashi; Ohtsu, Shigeyuki; Kato, Zen-ichiro; Okamoto, Nobuhiko; Nishimoto, Junji; Lev, Dorit; Miyoshi, Yoko; Ishikiriyama, Satoshi; Sonoda, Tohru; Sakazume, Satoru; Fukushima, Yoshimitsu; Kurosawa, Kenji; Cheng, Jan-Fang; Yoshiura, Koh-ichiro; Ohta, Tohru; Kishino, Tatsuya; Niikawa, Norio; Matsumoto, Naomichi.
Affiliation
  • Kurotaki N; Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Hum Mutat ; 22(5): 378-87, 2003 Nov.
Article in En | MEDLINE | ID: mdl-14517949
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Database: MEDLINE Main subject: Nuclear Proteins / Carrier Proteins / Sequence Deletion / Craniofacial Abnormalities / Intracellular Signaling Peptides and Proteins / Gigantism / Intellectual Disability Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Year: 2003 Type: Article
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PubMed Links

Database: MEDLINE Main subject: Nuclear Proteins / Carrier Proteins / Sequence Deletion / Craniofacial Abnormalities / Intracellular Signaling Peptides and Proteins / Gigantism / Intellectual Disability Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Year: 2003 Type: Article